Transcriptome analysis reveals molecularly distinct subtypes in retinoblastoma
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Abstract:
Retinoblastoma is the most frequent intraocular malignancy in children. Little is known on the molecular basis underlying the biological and clinical behavior of this cancer. Here, using gene expression profiles, we demonstrate the existence of two major retinoblastoma subtypes that can be divided into six subgroups. Subtype 1 has higher expression of cone related genes and higher percentage of RB1 germline mutation. By contrast, subtype 2 tumors harbor more genes with ganglion/neuronal features. The dedifferentiation in subtype 2 is associated with stemness features including low immune infiltration. Gene Otology analysis demonstrates that immune response regulations and visual related pathways are the key molecular difference between subtypes. Subtype 1b has the highest risk of invasiveness across all subtypes. The recognition of these molecular subtypes shed a light on the important biological and clinical perspectives for retinoblastomas.Keywords:
Retinoblastoma
The authors analyze the pathohistological archives of the Tashkent Research Institute of Ophthalmic Diseases for the years 1985-1994 and their own materials collected in recent years: 44 eyes enucleated for retinoblastoma. The microscopic picture of 44 tumors is as follows: retinoblastoma A in 12 (27.3%) cases, retinoblastoma B in 16 (36.3%), retinoblastoma C in 9 (20.4%), and mixed form in 7 (16%) cases. The total level of retinoblastoma A and B is almost 64%; this condition is positively life-threatening. The authors emphasize the necessity of health education of the population and improvement of primary health care and prophylactic check-ups of preschool children.
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In recent years, the treatment concept of retinoblastoma has changed from focusing on saving children's life to preserving the eyeballs and useful visual function. As a promising way to retain the eyeball, the application of vitrectomy in patients with retinoblastoma has long been debated. In view of the special anatomical structure of eyes and the biological characteristics of retinoblastoma cells, retinoblastoma is always prone to recurrence and metastasis after vitrectomy. Therefore, vitrectomy could hardly be a routine treatment and it should be used in retinoblastoma patients cautiously. (Chin J Ophthalmol, 2018, 54: 649-651).近年来视网膜母细胞瘤（RB）的治疗理念已从关注保护患者的生命转变为尽可能保留患者的眼球和有用视功能。玻璃体切除术作为一种保留眼球的治疗方式，是否可以应用于RB的治疗一直存在很大争议。鉴于眼球特殊的解剖结构及RB细胞的生物学特性，本文通过分析玻璃体切除术治疗RB存在的问题以及术后复发性RB的组织病理学改变，指出RB患者进行玻璃体切除术存在较高的肿瘤复发及转移风险，玻璃体切除术不宜作为RB的常规治疗方式，应审慎选择玻璃体切除术治疗RB。（中华眼科杂志，2018，54：649-651）.
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Retinoblastoma
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Of 726 eyes consecutively enucleated at the Mayo Clinic from 1954 through 1974, 41 contained retinoblastoma. In no instance was unsuspected retinoblastoma identified, nor could retinoblastoma be confirmed pathologically in an additional eight eyes in which retinoblastoma was considered in the differential diagnosis. In each of our eight misdiagnosed cases, the eyes were already blind and were cosmetically defective. The frequency of clinical misdiagnosis of retinoblastoma is high in part because it must be considered in every case of leukokoria. Although every effort was made to arrive at an accurate clinical diagnosis, the clinical misdiagnosis of retinoblastoma in a blind eye is of far less serious consequence than the clinical misdiagnosis of a tumor in a seeing eye.
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Objective To investigate the siginificance of Fas/FasL and p53 expression in retinoblastoma.Methods FasL,Fas and bcl 2 were detected immunohistochemically in 45 cases of retinoblastoma and 12 cases of normal retina.Results The expression of Fas in retinoblastoma and normal retina were very low with no difference( P 0.05).The expression of FasL in retinoblastoma and normal retina were high,but with no significantly difference( P 0.05).p53 was highly expressed in retinoblastoma and low expressed in normal retina,with significant difference( P 0.0002).Conclusion High expression of FasL and low expression of Fas in retinoblastoma and normal retina suggested that they might be associated with immune escape.The high expression of p53 in retinoblastoma was closely associated with the tumor development.\;
Retinoblastoma
Fas ligand
P53 expression
Immune escape
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Retinoblastoma
Retinoblastoma protein
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Human retinoblastoma is caused by mutational inactivation of the retinoblastoma suppressor gene (RB). We have examined intraocular tumorigenicity of retinoblastoma cells in which RB expression was achieved by retroviral transduction. Retinoblastoma cells were injected into the anterior chambers of severe combined immunodeficient mouse eyes, and tumorigenicity was assessed. RB-expressing retinoblastoma cells usually failed to form progressive tumors in the anterior chamber, whereas the parental, RB-negative line, WERI-Rb27, was rapidly tumorigenic. These results support the hypothesis that inactivation of the RB gene is critical for the growth of retinoblastoma tumors. The potential use of RB reconstitution for treating human retinoblastoma is suggested by our finding that intraocular tumor growth can be suppressed by RB expression.
Retinoblastoma
Retinoblastoma protein
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Background The brown planthopper (BPH) Nilaparvata lugens (Stål) is one of the most serious insect pests of rice in Asia. However, little is known about the mechanisms responsible for the development, wing dimorphism and sex difference in this species. Genomic information for BPH is currently unavailable, and, therefore, transcriptome and expression profiling data for this species are needed as an important resource to better understand the biological mechanisms of BPH. Methodology/Principal Findings In this study, we performed de novo transcriptome assembly and gene expression analysis using short-read sequencing technology (Illumina) combined with a tag-based digital gene expression (DGE) system. The transcriptome analysis assembles the gene information for different developmental stages, sexes and wing forms of BPH. In addition, we constructed six DGE libraries: eggs, second instar nymphs, fifth instar nymphs, brachypterous female adults, macropterous female adults and macropterous male adults. Illumina sequencing revealed 85,526 unigenes, including 13,102 clusters and 72,424 singletons. Transcriptome sequences larger than 350 bp were subjected to Gene Orthology (GO) and KEGG Orthology (KO) annotations. To analyze the DGE profiling, we mainly compared the gene expression variations between eggs and second instar nymphs; second and fifth instar nymphs; fifth instar nymphs and three types of adults; brachypterous and macropterous female adults as well as macropterous female and male adults. Thousands of genes showed significantly different expression levels based on the various comparisons. And we randomly selected some genes to confirm their altered expression levels by quantitative real-time PCR (qRT-PCR). Conclusions/Significance The obtained BPH transcriptome and DGE profiling data provide comprehensive gene expression information at the transcriptional level that could facilitate our understanding of the molecular mechanisms from various physiological aspects including development, wing dimorphism and sex difference in BPH.
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Retinoblastoma
Eye neoplasm
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Objective To investigate the significant of Fas and bcl?2 expression in retinoblastoma.Methods The immunohistochemical staining was performed to detect Fas and bcl?2 in 45 cases of retinoblastoma and 12 cases of normal retina.Results The expression of Fas in retinoblastoma and normal retina were 0.255±0.441 and 0.083±0.289 respectively ( P =0.114?8).bcl?2 was high in retinoblastoma 2.702± 1.082 and low in normal retina 0.167±0.389,showing significant difference( P 0.000?1).Conclusion Low regulation of Fas expression in retinoblastoma and normal retina suggested that it is a throughout event which prohibit the apoptosis. The high expression of bcl?2 in retinoblastoma was close associated with the tumour development.
Retinoblastoma
Retinoblastoma protein
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